Sunday, January 8, 2012

Who did your mutation come from?

I would like to welcome all of you back! I've decided to make a pledge to myself to get back in the swing of things and set some goals for my blog! My first easily achievable goal is one post a month with new information that I have not previously covered.

Today's blog comes from this article. If only takes a minute to read if you would like to click over. The main point of the article is a new finding related to the BRCA mutations. I'm sure we all realize that these mutations and their study is still in its infancy. Over the years to come we will all be flooded with information. This specific article caught my attention because of my family history. For those of you have read my entire story you know that me and my sister both have the BRCA 2 mutation, but we don't have a complete history of who carried it before us. Our mother lost her battle with cancer before testing was widespread, and my maternal grandparents had both passed before we made the decision to have the testing done for ourselves. This is all significant in my mind. I'm an information junkie, and I can only imagine what the future holds for my family.

Back to the article. The title caught my attention, but the first sentence carried my through the end and left me wanting to find the actual study results. Why do you ask? Anytime I come across information based on age or the early onset of cancer I feel like it applies to my family and want to analyze every word with intense scrutiny.

In this specific study 130 women with breast or ovarian cancer and one of the mutations were considered. These women were all chosen because they knew which of their parents had passed their gene mutation to them. In the cases where the father had passed the gene down there was a higher likelihood that early onset cancer was present. This was in direct relationship to those whose genes were passed by the mother. This is important for those of us carrying a gene mutation.

When we become aware of our gene mutations we are thrust into a demanding and time sensitive battle of what to do and when. Each of us face the decision making process and attempt to make the best choices based on what we have available to us. In this study we are given fairly specific information. If your mutation was passed from your mother you may have a little more time to make these sensitive decisions, whereas if yours originated from the paternal side you might need to stay a little more aware of the recommendations and what early onset could mean for you.

How far down the line do these implications carry? Let's say that my grandfather was the one who passed the mutation to my mother, are their early onset tendencies that continue to carry on to my sister and I?

Another portion of the article highlighted on the point that mutations have become consistently documented in women of Irish and Jamaican descent. These findings are not all that surprising to me. I believe as testing becomes more common place we will find a widespread population of many lineages exhibiting breast and ovarian cancer related mutations.


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